Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Department of Oncology, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, UK.
Pigment Cell Melanoma Res. 2017 May;30(3):307-316. doi: 10.1111/pcmr.12574. Epub 2017 Apr 19.
Melanoma in young children is rare; however, its incidence in adolescents and young adults is rising. We describe the clinical course of a 15-year-old female diagnosed with AJCC stage IB non-ulcerated primary melanoma, who died from metastatic disease 4 years after diagnosis despite three lines of modern systemic therapy. We also present the complete genomic profile of her tumour and compare this to a further series of 13 adolescent melanomas and 275 adult cutaneous melanomas. A somatic BRAF mutation and a high mutational load equivalent to that found in adult melanoma and composed primarily of C>T mutations were observed. A germline genomic analysis alongside a series of 23 children and adolescents with melanoma revealed no mutations in known germline melanoma-predisposing genes. Adolescent melanomas appear to have genomes that are as complex as those arising in adulthood and their clinical course can, as with adults, be unpredictable.
儿童期黑色素瘤很少见；然而，青少年和年轻人的发病率正在上升。我们描述了一位 15 岁女性的临床病程，她被诊断为 AJCC 分期 IB 期非溃疡性原发性黑色素瘤，尽管接受了三线现代全身治疗，但在诊断后 4 年内死于转移性疾病。我们还介绍了她肿瘤的完整基因组图谱，并将其与另外 13 例青少年黑色素瘤和 275 例成人皮肤黑色素瘤进行了比较。观察到一个体细胞 BRAF 突变和一个高突变负荷，与成人黑色素瘤中的突变负荷相当，主要由 C>T 突变组成。与一系列 23 名患有黑色素瘤的儿童和青少年一起进行的种系基因组分析未发现已知种系黑色素瘤易感基因的突变。青少年黑色素瘤的基因组似乎与成年人的一样复杂，其临床病程也可能像成年人一样不可预测。
